CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Hereditary Melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019 2013
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726 2001
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR The remaining two mutations, a G-to-W mutation at position 101 (Gl01W) and V126D, both of which are associated with familial melanoma, were found to be temperature sensitive for binding to Cdk4 and Cdk6 in vitro, for inhibiting cyclin D1-Cdk4 in a reconstituted pRb-kinase assay, and for increasing the proportion of G1-phase cells following transfection. 8668202 1996
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892 2013
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay. 10389768 1999
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780 1995
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information. 10498896 1999
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. 10491434 1999
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019 2013
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387 1994
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Familial head and neck cancer: molecular analysis of a new clinical entity. 12352668 2002
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062 2009
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. 10874641 1999
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.710 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202 1996
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234 2000
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156 2011
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR INK4/ARF germline alterations in pancreatic cancer patients. 14679123 2004
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902 2002
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726 2001